| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Arthrogryposis |
Arthrogryposis multiplex congenita |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Fibrillation |
Atrial Fibrillation |
CTD_human_DG |
30061737 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atrial Fibrillation |
Atrial fibrillation |
Pubtator |
30061737 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Atrial Fibrillation |
Atrial fibrillation |
Pubtator |
37581400 |
Inhibit |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Bladder Neoplasm |
Bladder Neoplasm |
BEFREE |
31020952 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Blepharoptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
23497265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
23497265, 26657485 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma of bladder |
Bladder carcinoma |
BEFREE |
31020952 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
BEFREE |
25814227 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathies |
Cardiomyopathy |
Pubtator |
30061737 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy Dilated |
Dilated cardiomyopathy |
Pubtator |
32863228 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cardiomyopathy, Familial Idiopathic |
Cardiomyopathy |
BEFREE |
25814227 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital myopathy (disorder) |
Congenital myopathy |
BEFREE |
17160903, 22560515, 29457652 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital pectus excavatum |
Congenital Pectus Excavatum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia, Vascular |
Dementia |
BEFREE |
31447667 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glaucoma Open Angle |
Open angle glaucoma |
Pubtator |
39568137 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gross motor development delay |
Developmental delay |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| LATERAL MENINGOCELE SYNDROME |
Lateral Meningocele Syndrome |
BEFREE |
19901961 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Leiomyosarcoma |
Leiomyosarcoma |
Pubtator |
19901961 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| LIMB-MAMMARY SYNDROME |
Limb-Mammary Syndrome |
BEFREE |
19901961 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
23497265 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of prostate |
Prostate cancer |
BEFREE |
31623830 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of urinary bladder |
Urinary bladder cancer |
BEFREE |
31020952 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild cognitive disorder |
Cognitive disorder |
BEFREE |
31447667 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) |
Minicore myopathy with external ophthalmoplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myofibrillar Myopathy |
Myofibrillar myopathy |
BEFREE |
22560515 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myofibrillar Myopathy |
Myofibrillar myopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathies Nemaline |
Nemaline myopathy |
Pubtator |
22560515 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathies, Nemaline |
Myopathy |
BEFREE |
19181092, 22407809, 22560515, 25814227 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopathies, Nemaline |
Myopathy |
CLINVAR_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myopathy |
Myopathy |
LHGDN |
17160903 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
BEFREE |
29457652 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopathy |
Myopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myotonia Congenita |
Myotonia congenita |
Pubtator |
22560515 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nasopharyngeal carcinoma |
Nasopharyngeal Carcinoma |
BEFREE |
29664897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nemaline Myopathy 7 |
Nemaline myopathy |
CLINGEN_DG |
11422377, 17160903, 22343409, 22560515, 24598388, 24610938, 26996939, 27848944, 29457652 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nemaline Myopathy 7 |
Nemaline myopathy |
GENOMICS_ENGLAND_DG |
17160903, 24610938 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nemaline Myopathy 7 |
Nemaline myopathy |
UNIPROT_DG |
17160903, 22560515 |
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nemaline Myopathy 7 |
Nemaline myopathy |
CTD_human_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Nemaline Myopathy 7 |
Nemaline myopathy |
CLINVAR_DG |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Neonatal Hypotonia |
Hypotonia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29664897 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
25814227 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
CTD_human_DG |
30061737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostate carcinoma |
Prostate cancer |
BEFREE |
31623830 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ptosis |
Ptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Squamous Cell Carcinoma of Head and Neck |
Squamous cell carcinoma |
Pubtator |
34917682 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Stomach Neoplasms |
Stomach neoplasms |
Pubtator |
29342841 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Typical nemaline myopathy |
Nemaline myopathy |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
31020952 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Urinary Bladder Neoplasms |
Urinary bladder neoplasms |
Pubtator |
34541834 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |